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Disease Name: Cornelia de Lange syndrome

Genes Covered:

ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81
Test Details Pricing

Panel: Strand Neurocognitive Disorders Test

Disorder Category: Intellectual disability

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request